ClinVar Miner

List of variants in gene SCN10A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys) rs146151670 0.00054
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00041
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp) rs202192818 0.00033
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln) rs201955990 0.00033
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe) rs375940680 0.00015
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val) rs554062977 0.00011
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro) rs138404783 0.00010
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys) rs375274122 0.00010
NM_006514.4(SCN10A):c.3704C>T (p.Ala1235Val) rs765984332 0.00008
NM_006514.4(SCN10A):c.1754C>T (p.Ser585Leu) rs781705809 0.00006
NM_006514.4(SCN10A):c.4208T>C (p.Ile1403Thr) rs140825889 0.00006
NM_006514.4(SCN10A):c.3556C>A (p.Leu1186Met) rs192493052 0.00005
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr) rs200324539 0.00005
NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val) rs756133876 0.00005
NM_006514.4(SCN10A):c.5294C>T (p.Ser1765Leu) rs369137515 0.00004
NM_006514.4(SCN10A):c.1534C>T (p.Arg512Ter) rs200714519 0.00003
NM_006514.4(SCN10A):c.445C>T (p.Arg149Ter) rs745868315 0.00003
NM_006514.4(SCN10A):c.1435T>C (p.Ser479Pro) rs1245630548 0.00001
NM_006514.4(SCN10A):c.4336A>G (p.Met1446Val) rs527290934 0.00001
NM_006514.4(SCN10A):c.470+8G>A rs1064797293 0.00001
NM_006514.4(SCN10A):c.4729C>T (p.Leu1577=) rs757294772 0.00001
GRCh37/hg19 3p22.2(chr3:38763749-38766805)x1
NM_006514.4(SCN10A):c.1079G>T (p.Arg360Leu) rs762451403
NM_006514.4(SCN10A):c.1259A>G (p.Glu420Gly) rs2063810129
NM_006514.4(SCN10A):c.1618G>T (p.Gly540Cys) rs779182285
NM_006514.4(SCN10A):c.1667A>T (p.Gln556Leu) rs1423285355
NM_006514.4(SCN10A):c.2476G>T (p.Asp826Tyr) rs199535863
NM_006514.4(SCN10A):c.357C>T (p.Ile119=) rs1575182553
NM_006514.4(SCN10A):c.4055del (p.Asn1352fs) rs1575938186
NM_006514.4(SCN10A):c.4280dup (p.Leu1428fs)
NM_006514.4(SCN10A):c.5332C>T (p.Pro1778Ser)
NM_006514.4(SCN10A):c.625C>T (p.Arg209Cys)
NM_006514.4(SCN10A):c.691+1G>A
NM_006514.4(SCN10A):c.928T>G (p.Cys310Gly)

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